ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825129798
Gene: NF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1742921
ClinVar RCV Id:
RCV002337691
RCV003598085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000258.1:p.Ala1589Val
CA399001383
NM_000267.3:c.4766C>T